A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665817



Internal ID9585236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13368736..13369056hg38UCSC Ensembl
chr19:13479550..13479870hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6497219, essv6488440, essv6002828, essv5568405, essv6135514, essv5411985, essv5558515, essv6175584, essv6412766, essv5999682, essv6057985, essv6112754, essv5824393, essv6332346, essv6009787, essv6121136, essv6197388, essv6306924, essv5982706, essv5419435, essv6311583, essv6359508, essv5896802, essv6259980, essv6370968, essv6254080, essv5769651, essv5421330, essv5480874, essv5496687, essv5412648, essv5993361, essv6151306, essv5906913, essv6253787, essv5483181, essv6039633, essv6551993, essv6430333, essv6197424, essv6419410, essv5562577, essv6540837, essv6166386, essv5552002, essv6530628, essv5789612, essv6369990, essv5630115, essv5906029, essv5858126, essv6270969, essv6080934, essv5627787, essv5412561, essv5881914, essv5458049, essv5799518, essv6239008, essv6596673, essv6096569, essv5502512, essv6202306, essv6023075, essv6400382, essv5827229, essv6517184, essv5793973, essv5807383, essv6113997, essv6435883, essv5410536, essv5596689, essv6464281, essv6343429, essv5969444, essv5669071, essv6342833, essv6046397, essv5794869, essv5834782, essv6261865, essv5921769, essv6282863, essv5604423, essv5613819, essv6120205, essv5556773, essv5564046, essv5905485, essv5656053, essv6371518, essv6500806, essv5913176, essv6124146, essv6105220, essv5437493, essv6422977, essv5818323, essv5650852, essv5826273, essv5736379, essv6313433, essv5630714, essv5596608, essv6439004, essv6019245, essv6326271, essv5863663, essv5941809, essv6375134, essv6462241, essv5473499, essv5548431, essv6012617, essv5777879, essv5824500, essv6501282, essv5726791, essv5504765, essv6538070, essv6105602, essv6549758, essv5636247, essv5457311, essv6027381, essv6314579, essv6364498, essv5873110, essv6214321, essv5587081, essv6304123, essv6139376, essv6016075, essv6208771, essv5737323, essv5737995, essv6557342, essv5441720, essv6340744, essv5912498, essv6475048, essv6555757, essv5681060, essv6042904, essv5820130, essv6529912, essv6190034, essv6109934, essv5665559, essv5832925, essv6336023, essv5517545, essv5726610, essv5531291, essv5417153, essv6469209, essv6392928, essv5813136, essv6296600, essv5410869, essv5603290, essv5448489, essv5463400, essv6387292, essv5526073, essv5696303, essv6558899, essv5883123, essv6162775, essv5623704, essv5524481, essv6394903, essv6195663
SamplesHG00613, NA19012, NA19137, NA19207, NA18870, NA12489, NA19152, NA19445, HG00537, NA18861, NA18605, HG00536, NA18520, NA18595, NA19904, NA18530, NA18871, NA19404, NA18523, NA18975, HG00500, HG01083, NA19209, NA18501, NA19093, NA19401, NA19311, NA11918, NA19469, HG00707, NA18511, NA19455, NA19435, NA20296, NA11931, NA12813, NA19334, NA19331, NA18953, NA19451, NA18972, NA18517, HG01491, NA18608, NA19920, NA19461, NA19144, NA19210, NA19834, NA12776, NA18963, NA19257, NA19108, NA19701, NA18488, NA19236, NA19355, HG00699, NA18505, NA19472, NA18873, NA19776, NA18868, NA19463, NA19914, HG01148, NA18912, NA18967, NA19239, NA19390, NA11994, NA19068, NA19917, NA12155, NA18576, NA19443, NA19722, NA18990, NA18956, NA19440, NA19908, NA18959, NA18976, HG01136, NA19835, NA18916, NA19190, NA19213, HG00436, NA19360, NA19395, NA19153, NA07346, NA18537, NA18620, NA19129, NA18633, NA19703, NA19373, NA18486, NA18968, NA19102, NA18522, NA19238, NA18510, NA20344, NA19119, HG00560, NA18977, NA19098, NA19901, NA18504, NA18858, NA18942, NA19909, NA18988, HG00512, HG01070, HG00525, NA18562, NA19131, NA19159, NA19328, NA18910, NA18579, NA18974, NA19462, NA18945, NA18619, NA18987, NA18597, NA19376, HG01095, NA18599, NA18909, NA19201, NA20332, HG00650, NA18538, NA19403, HG00663, NA12156, NA19116, NA18971, NA19755, NA19818, NA18577, HG00654, NA18614, NA19452, NA11830, NA18944, NA18917, NA19399, NA19160, NA18499, NA18571, HG01108, NA19470, NA19171, NA19240, NA18532, NA18853, NA19204, NA18981, NA19350, HG00684, NA06994, NA18555, NA19200, NA19007, NA18519, NA18980, NA19439
Known GenesCACNA1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665817
Frequency
Sample Size1151
Observed Gain0
Observed Loss174
Observed Complex0
Frequencyn/a


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